一种人类血管疾病，即瓣膜上主动脉狭窄，定位于7号染色体。
A human vascular disorder, supravalvular aortic stenosis, maps to chromosome 7.
作者信息
Ewart A K, Morris C A, Ensing G J, Loker J, Moore C, Leppert M, Keating M
机构信息
Department of Human Genetics, University of Utah, Salt Lake City 84112.
出版信息
Proc Natl Acad Sci U S A. 1993 Apr 15;90(8):3226-30. doi: 10.1073/pnas.90.8.3226.
Abstract
The pathogenesis of vascular disease is unclear, but genetic factors play an important role. In this study we performed linkage analyses in two families with supravalvular aortic stenosis, an inherited vascular disorder that causes narrowing of major arteries and may lead to cardiac overload and failure. DNA markers on the long arm of chromosome 7 (D7S371, D7S395, D7S448, and ELN) were linked to supravalvular aortic stenosis in both families with a combined logarithm of likelihood for linkage (lod score) of 5.9 at the ELN locus. These findings indicate that a gene for supravalvular aortic stenosis is located in the same chromosomal subunit as elastin, which becomes a candidate for the disease gene.
摘要
血管疾病的发病机制尚不清楚，但遗传因素起着重要作用。在本研究中，我们对两个患有主动脉瓣上狭窄的家族进行了连锁分析，这是一种遗传性血管疾病，可导致主要动脉狭窄，并可能导致心脏负荷过重和衰竭。7号染色体长臂上的DNA标记（D7S371、D7S395、D7S448和ELN）在两个家族中均与主动脉瓣上狭窄相关联，在ELN基因座处的连锁对数似然值（lod分数）为5.9。这些发现表明，主动脉瓣上狭窄的基因位于与弹性蛋白相同的染色体亚单位中，弹性蛋白成为该疾病基因的候选者。
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